标题
Exome versus transcriptome sequencing in identifying coding region variants
作者
关键词
-
出版物
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
Volume 12, Issue 3, Pages 241-251
出版商
Informa UK Limited
发表日期
2012-04-02
DOI
10.1586/erm.12.10
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Genomics really gets personal: How exome and whole genome sequencing challenge the ethical framework of human genetics research
- (2011) Holly K. Tabor et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family
- (2011) Gladys Montenegro et al. ANNALS OF NEUROLOGY
- Unraveling the Genetics of Cancer: Genome Sequencing and Beyond
- (2011) Kit Man Wong et al. Annual Review of Genomics and Human Genetics
- Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV
- (2011) Jarupon Fah Sathirapongsasuti et al. BIOINFORMATICS
- Whole transcriptome sequencing reveals recurrent NOTCH1 mutations in mantle cell lymphoma
- (2011) R. Kridel et al. BLOOD
- Targeted enrichment of genomic DNA regions for next-generation sequencing
- (2011) F. Mertes et al. Briefings in Functional Genomics
- Medical DNA sequencing
- (2011) Ali J Marian CURRENT OPINION IN CARDIOLOGY
- Whole exome and whole genome sequencing
- (2011) David Bick et al. CURRENT OPINION IN PEDIATRICS
- Advances in Alport syndrome diagnosis using next-generation sequencing
- (2011) Rosangela Artuso et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation
- (2011) Melanie A. Jones et al. GENETICS IN MEDICINE
- Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time
- (2011) Jonathan S Berg et al. GENETICS IN MEDICINE
- Revisiting Mendelian disorders through exome sequencing
- (2011) Chee-Seng Ku et al. HUMAN GENETICS
- Homozygosity Mapping and Whole-Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia
- (2011) Andrew R. Cullinane et al. JOURNAL OF INVESTIGATIVE DERMATOLOGY
- A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing
- (2011) J. Majewski et al. JOURNAL OF MEDICAL GENETICS
- What can exome sequencing do for you?
- (2011) J. Majewski et al. JOURNAL OF MEDICAL GENETICS
- Exome sequencing: a transformative technology
- (2011) Andrew B Singleton LANCET NEUROLOGY
- Identification of recurring tumor-specific somatic mutations in acute myeloid leukemia by transcriptome sequencing
- (2011) P A Greif et al. LEUKEMIA
- The functional role of long non-coding RNA in human carcinomas
- (2011) Ewan A Gibb et al. Molecular Cancer
- Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma
- (2011) Ignacio Varela et al. NATURE
- An integrated semiconductor device enabling non-optical genome sequencing
- (2011) Jonathan M. Rothberg et al. NATURE
- A decade’s perspective on DNA sequencing technology
- (2011) Elaine R. Mardis NATURE
- Targeted RNA sequencing reveals the deep complexity of the human transcriptome
- (2011) Tim R Mercer et al. NATURE BIOTECHNOLOGY
- Transcriptome sequencing across a prostate cancer cohort identifies PCAT-1, an unannotated lincRNA implicated in disease progression
- (2011) John R Prensner et al. NATURE BIOTECHNOLOGY
- Performance comparison of exome DNA sequencing technologies
- (2011) Michael J Clark et al. NATURE BIOTECHNOLOGY
- Exome sequencing supports a de novo mutational paradigm for schizophrenia
- (2011) Bin Xu et al. NATURE GENETICS
- Increased exonic de novo mutation rate in individuals with schizophrenia
- (2011) Simon L Girard et al. NATURE GENETICS
- Frequent mutations of chromatin remodeling genes in transitional cell carcinoma of the bladder
- (2011) Yaoting Gui et al. NATURE GENETICS
- Exome sequencing identifies GRIN2A as frequently mutated in melanoma
- (2011) Xiaomu Wei et al. NATURE GENETICS
- Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
- (2011) Brian J O'Roak et al. NATURE GENETICS
- Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia
- (2011) Xiao-Jing Yan et al. NATURE GENETICS
- Multiplexed array-based and in-solution genomic enrichment for flexible and cost-effective targeted next-generation sequencing
- (2011) Magdalena Harakalova et al. Nature Protocols
- Exome sequencing as a tool for Mendelian disease gene discovery
- (2011) Michael J. Bamshad et al. NATURE REVIEWS GENETICS
- BRAFMutations in Hairy-Cell Leukemia
- (2011) Enrico Tiacci et al. NEW ENGLAND JOURNAL OF MEDICINE
- MED12, the Mediator Complex Subunit 12 Gene, Is Mutated at High Frequency in Uterine Leiomyomas
- (2011) N. Makinen et al. SCIENCE
- The Emergence of lncRNAs in Cancer Biology
- (2011) J. R. Prensner et al. Cancer Discovery
- RNA-Seq and find: entering the RNA deep field
- (2011) Adam Roberts et al. Genome Medicine
- The real cost of sequencing: higher than you think!
- (2011) Andrea Sboner et al. GENOME BIOLOGY
- A comparative analysis of exome capture
- (2011) Jennifer S Parla et al. GENOME BIOLOGY
- Comparison of solution-based exome capture methods for next generation sequencing
- (2011) Anna-Maija Sulonen et al. GENOME BIOLOGY
- Comprehensive comparison of three commercial human whole-exome capture platforms
- (2011) Asan et al. GENOME BIOLOGY
- Computational and statistical approaches to analyzing variants identified by exome sequencing
- (2011) Nathan O Stitziel et al. GENOME BIOLOGY
- Application of second-generation sequencing to cancer genomics
- (2010) K. Robison BRIEFINGS IN BIOINFORMATICS
- Challenges of sequencing human genomes
- (2010) D. C. Koboldt et al. BRIEFINGS IN BIOINFORMATICS
- Exome sequencing: the sweet spot before whole genomes
- (2010) J. K. Teer et al. HUMAN MOLECULAR GENETICS
- Massively parallel sequencing and rare disease
- (2010) S. B. Ng et al. HUMAN MOLECULAR GENETICS
- A window into third-generation sequencing
- (2010) E. E. Schadt et al. HUMAN MOLECULAR GENETICS
- Massively parallel sequencing of ataxia genes after array-based enrichment
- (2010) Alexander Hoischen et al. HUMAN MUTATION
- A map of human genome variation from population-scale sequencing
- (2010) Richard M. Durbin et al. NATURE
- Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
- (2010) Sarah B Ng et al. NATURE GENETICS
- RNA sequencing: advances, challenges and opportunities
- (2010) Fatih Ozsolak et al. NATURE REVIEWS GENETICS
- Advances in understanding cancer genomes through second-generation sequencing
- (2010) Matthew Meyerson et al. NATURE REVIEWS GENETICS
- The $1,000 genome, the $100,000 analysis?
- (2010) Elaine R Mardis Genome Medicine
- Applications of New Sequencing Technologies for Transcriptome Analysis
- (2009) Olena Morozova et al. Annual Review of Genomics and Human Genetics
- Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing
- (2009) Graham A. Heap et al. HUMAN MOLECULAR GENETICS
- Mutational evolution in a lobular breast tumour profiled at single nucleotide resolution
- (2009) Sohrab P. Shah et al. NATURE
- Direct RNA sequencing
- (2009) Fatih Ozsolak et al. NATURE
- Targeted capture and massively parallel sequencing of 12 human exomes
- (2009) Sarah B. Ng et al. NATURE
- Faster human genome sequencing
- (2009) Yingrui Li et al. NATURE BIOTECHNOLOGY
- Exome sequencing identifies the cause of a mendelian disorder
- (2009) Sarah B Ng et al. NATURE GENETICS
- Virtual terminator nucleotides for next-generation DNA sequencing
- (2009) Jayson Bowers et al. NATURE METHODS
- Sequencing technologies — the next generation
- (2009) Michael L. Metzker NATURE REVIEWS GENETICS
- Mutation ofFOXL2in Granulosa-Cell Tumors of the Ovary
- (2009) Sohrab P. Shah et al. NEW ENGLAND JOURNAL OF MEDICINE
- Detection of single nucleotide variations in expressed exons of the human genome using RNA-Seq
- (2009) Iouri Chepelev et al. NUCLEIC ACIDS RESEARCH
- Allele-Specific Gene Expression Is Widespread Across the Genome and Biological Processes
- (2009) Ricardo Palacios et al. PLoS One
- Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
- (2009) Murim Choi et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Targeted next-generation sequencing of a cancer transcriptome enhances detection of sequence variants and novel fusion transcripts
- (2009) Joshua Z Levin et al. GENOME BIOLOGY
- The complete genome of an individual by massively parallel DNA sequencing
- (2008) David A. Wheeler et al. NATURE
- The diploid genome sequence of an Asian individual
- (2008) Jun Wang et al. NATURE
- Accurate whole human genome sequencing using reversible terminator chemistry
- (2008) David R. Bentley et al. NATURE
- Next-generation DNA sequencing
- (2008) Jay Shendure et al. NATURE BIOTECHNOLOGY
- RNA-Seq: a revolutionary tool for transcriptomics
- (2008) Zhong Wang et al. NATURE REVIEWS GENETICS
- Transcriptome sequencing of malignant pleural mesothelioma tumors
- (2008) D. J. Sugarbaker et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Real-Time DNA Sequencing from Single Polymerase Molecules
- (2008) J. Eid et al. SCIENCE
- The impact of next-generation sequencing technology on genetics
- (2008) Elaine R. Mardis TRENDS IN GENETICS
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